Clefting
Gene: B3GALT6
B3GALT6 (beta-1,3-galactosyltransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Cleft palate described as a rare feature of Ehlers-Danlos syndrome, progeroid type, 2 615349. For Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 cleft palate is seen in 31 percent of patients and high-arched palate in 12 percent of patients. It is a confirmed DD gene for SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 which includes cleft palate as a curated phenotype. Literature search did not detect any publications for this gene and cleft. Enough evidence for this gene to be green for SEMDJL1.Created: 31 May 2017, 1:52 p.m.
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1; Ehlers-Danlos syndrome, progeroid type, 2 615349
Details
- Sources
-
- Expert Review Amber
- Phenotypes
-
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
- SEMDJL1
- Ehlers-Danlos syndrome, progeroid type, 2 615349
- OMIM
- 615291
- Clinvar variants
- Variants in B3GALT6
- Penetrance
- Complete
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Undiagnosed metabolic disorders
- Osteogenesis imperfecta
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)B3GALT6 was added to Cleftingpanel. Sources: Expert Review Amber
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)B3GALT6 was created by ellenmcdonagh